The work presented is a clinical and genetical trial of a couple with a reproductive failure and a family history of chromosomal abnormalities. The most reliable and accurate methods used for antenatal diagnosis of Down syndrome fetuses are highlighted.
(1) Background: Orthodontic appliances have changed and improved with the increasing demand for orthodontic treatment of the general population. Patients desire for shorter orthodontic treatments and for the wearing of more aesthetic devices has led to the technological development of orthodontic brackets; these were manufactured from aesthetic materials (ceramics, composite polymers) and presented different designs regarding the way archwires are ligated to the bracket. The aim of this study was to determine whether there were any differences between the static frictional forces generated by stainless steel (metallic) and polycrystalline alumina (ceramics) conventional and self-ligating brackets. (2) Methods: Static friction assessment was carried out in vitro with a universal testing machine, HV-500N-S (Schmidt Control Instruments, Hans Schmidt & Co. GmbH), intended for measuring compression and traction forces. (3) Results: The study revealed significant differences in static frictional forces at the bracket-archwire interface between the tested brackets. Stainless steel brackets produced lower static friction forces than polycrystalline alumina and self-ligating brackets generally produced lower static frictional forces than conventional brackets. The reduction of frictional forces was noticeable in the first stages of treatment, when thin, flexible orthodontic archwires (0.016” NiTi) are used. Engaged with large rectangular stainless steel archwires, (0.019 × 0.025” SS), the frictional forces produced by conventional and self-ligating metal brackets were similar, no significant differences being observed between the two types of metallic design. However, in the case of tested ceramic brackets, the results showed that the self-ligating type allows a reduction in frictional forces even in advanced stages of treatment compared to conventionally ligation. (4) Conclusions: From the perspective of an orthodontic system with low frictional forces, metal brackets are preferable to aesthetic ones, and self-ligating ceramic brackets are preferable to conventional ceramic brackets.
This research illustrates a complex, observational, longitudinal, comparative and noninterventional biometric study on the evaluation, in dynamics, of stature-weight development, in children with Down syndrome (DS), compared to children with varying degrees of mental retardation (MR), by repeatedly determining their height and weight, as well as by correlating these two parameters, in order to highlight the harmonious or disharmonious aspect of their stature-weight development. For this purpose, from patients’ medical files, we extracted the data regarding the periodic, annual, height and weight determinations of 50 preschoolers and schoolchildren, institutionalized in two Special Schools in Bucharest, which we compared with the standard tables used for Romanian population. The results showed that all children with DS show a disharmonious stature-weight development, with excess weight, as a consequence of both chromosomal trisomy and associated congenital malformations, especially heart malformations. In children with MR, the results showed a great phenotypic variability in terms of their stature-weight development. Thus, there were several cases in which the stature-weight development was harmonious, but, in the vast majority of cases, the results showed the presence of harmonious stature-weight development periods, which alternate with disharmonious stature-weight development periods, with weight surplus or weight deficit, alternation, which can be explained both by the involvement of genetic factors, and especially by the involvement of environmental, exogenous or endogenous factors.
It was performed a case-control study, that included totally 187 pregnant women hospitalized in Obstetrical-Gynecology Department of Prof. Dr. Panait Sarbu Hospital, Bucharest, Romania. The selection criteria for case sample were: age over 30 years, history of malformative risk, clinical exam that emphasised malformations and ultrasound examination that suspicioned embrio-fetal morphological abnormalities. We determined the serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3), by immunoenzymometry. As statistical analysis we determined the estimated median value. For each of the three parametres, the final curve was compared with the value obtained by spectrophotometry. The study revealed the predictive value of correlated use of these three parameters, together with ultrasound examination and cytogenetic investigations, in order to early prenatal diagnosis of congenital fetal anomalies.
Objectives:To describe the antenatal ultrasound findings and outcome of fetuses with congenital cystic adenomatoid malformation of the lung (CCAM). Methods: We used the classification of Adzick for describe the CCAM. The gravity of the pathology has been established according to the type, localization and size of the lesion, the CCAM volume ratio (CVR), and the presence of fetal complications (hydrops, mediastinal shift, polyhydramnios). For differential diagnosis between CCAM and pulmonary sequestretion was performed color Doppler. Cases with CVR > 1.6 and associated with fetal complications or associated with fetal malformations at the time of diagnosis were interpreted as cases with severe evolution. In these situations we discussed with patients about elective termination. In cases with favorable evolution we practiced serial scans. We have not practiced in-utero percutaneous pulmonary drainage in fetuses. Starting with 2012 we practiced prenatal maternal treatment with betamethasone in cases with microcystic CCAM. Newborns have conducted chest X-ray scan and surgical clinical examination. In cases with elective termination was practiced necropsy. Results: Between 03.01.2005-31.03.2013 we diagnosed 9 cases with CCAM at median gestational age of 23 (range, 18-30) weeks. Severe CCAM was identified in 6 cases, in which the elective termination of pregnancy was practiced. Necropsy was practiced in five cases and confirmed prenatal diagnosis. In three of the 9 cases the lesions was decrease, of which a case has been with maternal prenatal treatment with betamethasone. To all those 3 newborn prenatal diagnosis has been confirmed by chest X-ray scan. None of them required postnatally surgical treatment. Conclusions: In severe macrocystic CCAM without surgical treatment (in-utero percutaneous pulmonary drainage) the fetal prognosis remains reserved. In microcystic CCAM maternal prenatal treatment with betamethasone may improve the fetal and neonatal prognosis.Matthew-Wood syndrome (MWS) is known as the combination of pulmonary agenesis/hypoplasia, microphthalmia/anophthalmia, congenital cardiac, digestive, renal-urinary malformations and a diaphragmatic defects due to mutations within the STRA6 gene. MWS is most often lethal because of respiratory failure in presence of pulmonary defects.
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